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Page 1
Monogenic Parkinson's Disease: Genotype, Phenotype, Pathophysiology, and Genetic Testing.
Jia F, Fellner A, Kumar KR. Jia F, et al. Genes (Basel). 2022 Mar 7;13(3):471. doi: 10.3390/genes13030471. Genes (Basel). 2022. PMID: 35328025 Free PMC article. Review.
Furthermore, mutations in the GBA gene are a key risk factor for Parkinson's disease, and there have been major developments for X-linked dystonia parkinsonism. Moreover, atypical or complex parkinsonism may be due to mutations in genes such as ATP13A2 …
Furthermore, mutations in the GBA gene are a key risk factor for Parkinson's disease, and there have been major developments for X- …
X-Linked Dystonia-Parkinsonism: recent advances.
Bragg DC, Sharma N, Ozelius LJ. Bragg DC, et al. Curr Opin Neurol. 2019 Aug;32(4):604-609. doi: 10.1097/WCO.0000000000000708. Curr Opin Neurol. 2019. PMID: 31116117 Free PMC article. Review.
PURPOSE OF REVIEW: Our understanding of X-Linked Dystonia-Parkinsonism (XDP) has advanced considerably in recent years because of a wealth of new data describing its genetic basis, cellular phenotypes, neuroimaging features, and response to deep brain …
PURPOSE OF REVIEW: Our understanding of X-Linked Dystonia-Parkinsonism (XDP) has advanced considerably in recent …
X-Linked Parkinsonism: Phenotypic and Genetic Heterogeneity.
Di Lazzaro G, Magrinelli F, Estevez-Fraga C, Valente EM, Pisani A, Bhatia KP. Di Lazzaro G, et al. Mov Disord. 2021 Jul;36(7):1511-1525. doi: 10.1002/mds.28565. Epub 2021 May 7. Mov Disord. 2021. PMID: 33960519 Review.
In this review, we provide an updated overview of the phenotypic and genetic spectrum of the most relevant X-linked parkinsonian syndromes, namely X-linked dystonia-parkinsonism (XDP, Lubag disease), fragile X-associated tremor/ataxia syndrome (FXTAS), …
In this review, we provide an updated overview of the phenotypic and genetic spectrum of the most relevant X-linked parkinsonian syndromes, …
Oral diadochokinetic markers of X-linked dystonia-parkinsonism.
Kao TH, Rowe HP, Green JR, Stipancic KL, Sharma N, de Guzman JK, Supnet-Wells ML, Acuna P, Perry BJ. Kao TH, et al. Parkinsonism Relat Disord. 2024 Mar;120:105991. doi: 10.1016/j.parkreldis.2024.105991. Epub 2024 Jan 4. Parkinsonism Relat Disord. 2024. PMID: 38184995 Free PMC article.
INTRODUCTION: X-linked dystonia-parkinsonism (XDP) is a neurodegenerative disorder that may result in severe speech impairment. ...
INTRODUCTION: X-linked dystonia-parkinsonism (XDP) is a neurodegenerative disorder that may result in severe spe …
X-linked dystonia Parkinsonism: crossing a new threshold.
Ng AR, Jamora RDG, Rosales RL. Ng AR, et al. J Neural Transm (Vienna). 2021 Apr;128(4):567-573. doi: 10.1007/s00702-021-02324-0. Epub 2021 Mar 15. J Neural Transm (Vienna). 2021. PMID: 33721107 Review.
X-linked dystonia parkinsonism (XDP) is a neurodegenerative disorder that has received significant interest on several fronts. ...
X-linked dystonia parkinsonism (XDP) is a neurodegenerative disorder that has received significant interest on s …
X-linked dystonia parkinsonism: epidemiology, genetics, clinical features, diagnosis, and treatment.
Chin HL, Lin CY, Chou OH. Chin HL, et al. Acta Neurol Belg. 2023 Feb;123(1):45-55. doi: 10.1007/s13760-022-02144-3. Epub 2022 Nov 23. Acta Neurol Belg. 2023. PMID: 36418540 Review.
X-linked dystonia parkinsonism (XDP) is a rare X-linked recessive degenerative movement disorder that only affects Filipino descent, predominantly males. Its underlying cause is associated with the genetic alterations in the TAF1/DYT3 multiple t …
X-linked dystonia parkinsonism (XDP) is a rare X-linked recessive degenerative movement disorder that only affec …
G-quadruplexes in an SVA retrotransposon cause aberrant TAF1 gene expression in X-linked dystonia parkinsonism.
Nicoletto G, Terreri M, Maurizio I, Ruggiero E, Cernilogar FM, Vaine CA, Cottini MV, Shcherbakova I, Penney EB, Gallina I, Monchaud D, Bragg DC, Schotta G, Richter SN. Nicoletto G, et al. Nucleic Acids Res. 2024 Oct 28;52(19):11571-11586. doi: 10.1093/nar/gkae797. Nucleic Acids Res. 2024. PMID: 39287133 Free PMC article.
G-quadruplexes (G4s) are non-canonical nucleic acid structures that form in guanine (G)-rich genomic regions. X-linked dystonia parkinsonism (XDP) is an inherited neurodegenerative disease in which a SINE-VNTR-Alu (SVA) retrotransposon, characterised b …
G-quadruplexes (G4s) are non-canonical nucleic acid structures that form in guanine (G)-rich genomic regions. X-linked dyst …
Combined dystonias: clinical and genetic updates.
Weissbach A, Saranza G, Domingo A. Weissbach A, et al. J Neural Transm (Vienna). 2021 Apr;128(4):417-429. doi: 10.1007/s00702-020-02269-w. Epub 2020 Oct 24. J Neural Transm (Vienna). 2021. PMID: 33099685 Review.
Dopa-responsive dystonia (DYT/PARK-GCH1), rapid-onset dystonia-parkinsonism (DYT/PARK-ATP1A3), X-linked dystonia-parkinsonism (XDP, DYT/PARK-TAF1), and young-onset dystonia-parkinsonism (DYT/PARK-PRKRA) are monogenic combined dystonias accompanied by p …
Dopa-responsive dystonia (DYT/PARK-GCH1), rapid-onset dystonia-parkinsonism (DYT/PARK-ATP1A3), X-linked dystonia-par …
Neuroimaging and neuropathology studies of X-linked dystonia parkinsonism.
Arasaratnam CJ, Singh-Bains MK, Waldvogel HJ, Faull RLM. Arasaratnam CJ, et al. Neurobiol Dis. 2021 Jan;148:105186. doi: 10.1016/j.nbd.2020.105186. Epub 2020 Nov 20. Neurobiol Dis. 2021. PMID: 33227492 Free article. Review.
X-linked Dystonia Parkinsonism (XDP) is a recessive, genetically inherited neurodegenerative disorder endemic to Panay Island in the Philippines. ...
X-linked Dystonia Parkinsonism (XDP) is a recessive, genetically inherited neurodegenerative disorder endemic to …
A Network Imaging Biomarker of X-Linked Dystonia-Parkinsonism.
Niethammer M, Tang CC, Jamora RDG, Vo A, Nguyen N, Ma Y, Peng S, Waugh JL, Westenberger A, Eidelberg D. Niethammer M, et al. Ann Neurol. 2023 Oct;94(4):684-695. doi: 10.1002/ana.26732. Epub 2023 Jul 11. Ann Neurol. 2023. PMID: 37376770
OBJECTIVE: The purpose of this study was to characterize a metabolic brain network associated with X-linked dystonia-parkinsonism (XDP). METHODS: Thirty right-handed Filipino men with XDP (age = 44.4 8.5 years) and 30 XDP-causing mutation negative he …
OBJECTIVE: The purpose of this study was to characterize a metabolic brain network associated with X-linked dystonia- …
84 results